Variant report

Variant	nsv967476
Chromosome Location	chr7:152856029-152878074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:152874053..152876625-chr7:152880260..152882332,2	K562	blood:
2	chr7:152877954..152879856-chr7:153096882..153099868,2	K562	blood:
3	chr7:152876321..152879731-chr7:152886196..152889349,3	K562	blood:
4	chr7:152877189..152880146-chr7:152921229..152923329,2	K562	blood:

Extended variants
information (count: 215 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114909725	chr7:152856029-152856030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559354861	chr7:152856033-152856034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577397132	chr7:152856041-152856042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112123457	chr7:152856042-152856043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1357843	chr7:152856092-152856093	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182612782	chr7:152856113-152856114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186888613	chr7:152856127-152856128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142885412	chr7:152856181-152856182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4463337	chr7:152856187-152856188	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546653297	chr7:152873619-152873620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561593912	chr7:152873639-152873640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147086836	chr7:152873648-152873649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535808299	chr7:152873670-152873671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4407788	chr7:152873674-152873675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs568833568	chr7:152873702-152873703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372694819	chr7:152873738-152873739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551521317	chr7:152873764-152873765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377467268	chr7:152873766-152873767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566839079	chr7:152873783-152873784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534082224	chr7:152873793-152873794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192804056	chr7:152873866-152873867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4613898	chr7:152873870-152873871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs538442675	chr7:152873879-152873880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4357210	chr7:152873886-152873887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs184299294	chr7:152873903-152873904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4500004	chr7:152873907-152873908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs151096640	chr7:152873939-152873940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572792149	chr7:152873968-152873969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539993949	chr7:152874005-152874006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140980698	chr7:152874056-152874057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189969521	chr7:152874075-152874076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550734139	chr7:152874095-152874096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138693523	chr7:152874128-152874129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564129200	chr7:152874139-152874140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141958843	chr7:152874140-152874141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533106685	chr7:152874157-152874158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12538130	chr7:152874163-152874164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs34584710	chr7:152874166-152874167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs534209298	chr7:152874167-152874168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549348620	chr7:152874168-152874169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181184265	chr7:152874177-152874178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567780428	chr7:152874186-152874187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73481249	chr7:152874194-152874195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74745897	chr7:152874195-152874196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578107165	chr7:152874252-152874253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376606205	chr7:152874257-152874258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554435998	chr7:152874266-152874267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10952393	chr7:152874336-152874337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs200378146	chr7:152874349-152874350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62497491	chr7:152874350-152874351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152855600-152856200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:152873600-152890400	Weak transcription	Right Atrium	heart

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